Article
Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.
American journal of human genetics - 1 Jun 1991
Slipetz D M, Goodyer P R, Rozen R
Abstract excerpt
The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit structure of complex I in fibroblasts from two patients who have distinct clinical phenotypes...
Topics
- Alanine
- Blotting, Southern
- Child
- DNA
- Fibroblasts
- Humans
- Infant, Newborn
- Mitochondria
- Molecular Weight
- NAD(P)H Dehydrogenase (Quinone)
- Oxidation-Reduction
- Phenotype